Incidental Mutation 'R3915:Ets2'
ID 309617
Institutional Source Beutler Lab
Gene Symbol Ets2
Ensembl Gene ENSMUSG00000022895
Gene Name E26 avian leukemia oncogene 2, 3' domain
Synonyms Ets-2
MMRRC Submission 040913-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3915 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 95503274-95522093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95520037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 421 (R421H)
Ref Sequence ENSEMBL: ENSMUSP00000023612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023612]
AlphaFold P15037
Predicted Effect probably damaging
Transcript: ENSMUST00000023612
AA Change: R421H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023612
Gene: ENSMUSG00000022895
AA Change: R421H

DomainStartEndE-ValueType
SAM_PNT 87 170 3.35e-43 SMART
low complexity region 259 269 N/A INTRINSIC
ETS 361 446 8.49e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140544
Meta Mutation Damage Score 0.9700 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defective trophoblast formation and die by embryonic day 8.5, but tetraploid chimeric rescue results in viable and fertile mutants with wavy hair. Mammary tumors induced in carriers are reduced in size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik G A 5: 3,627,248 (GRCm39) V75I possibly damaging Het
AA986860 A G 1: 130,670,344 (GRCm39) K189E probably benign Het
Abcf1 C T 17: 36,270,402 (GRCm39) R596H possibly damaging Het
Abtb3 C A 10: 85,468,134 (GRCm39) H810N probably damaging Het
Axl T C 7: 25,460,169 (GRCm39) probably benign Het
Birc6 A G 17: 74,886,603 (GRCm39) K644E probably benign Het
Btnl7-ps T A 17: 34,760,489 (GRCm39) noncoding transcript Het
Car8 A T 4: 8,184,576 (GRCm39) probably benign Het
Ccdc62 C T 5: 124,092,778 (GRCm39) R588C probably damaging Het
Clasp2 T G 9: 113,737,805 (GRCm39) S374A probably damaging Het
Ctnnb1 A G 9: 120,784,717 (GRCm39) H503R probably benign Het
Cwf19l2 A G 9: 3,456,776 (GRCm39) H703R probably damaging Het
Efcab7 A T 4: 99,735,375 (GRCm39) Q133L probably damaging Het
Ehmt2 T C 17: 35,122,443 (GRCm39) S280P probably damaging Het
Eif4a3l1 A T 6: 136,306,420 (GRCm39) T294S probably benign Het
Eomes A G 9: 118,310,341 (GRCm39) M351V probably benign Het
Fam222b C G 11: 78,045,756 (GRCm39) P439R probably benign Het
Gbp11 T A 5: 105,478,978 (GRCm39) K153N probably damaging Het
Golim4 T C 3: 75,810,634 (GRCm39) T174A probably damaging Het
Grid1 A G 14: 35,242,684 (GRCm39) Y679C probably damaging Het
Gvin-ps5 A G 7: 105,929,445 (GRCm39) S151P probably benign Het
Ikzf3 T C 11: 98,381,412 (GRCm39) D56G probably damaging Het
Kcnj16 A G 11: 110,916,382 (GRCm39) D348G probably benign Het
Kidins220 T C 12: 25,103,957 (GRCm39) L1319P possibly damaging Het
Lrp1b T A 2: 41,339,248 (GRCm39) D751V probably damaging Het
Macc1 T C 12: 119,410,551 (GRCm39) C440R probably benign Het
Mbd2 T C 18: 70,755,680 (GRCm39) V382A probably benign Het
Or13a17 T A 7: 140,270,888 (GRCm39) D23E probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or6c68 G A 10: 129,158,178 (GRCm39) A229T probably benign Het
Pgs1 T G 11: 117,910,472 (GRCm39) S528A probably benign Het
Pitpnm3 T C 11: 72,003,110 (GRCm39) T67A probably damaging Het
Pnliprp2 T G 19: 58,748,794 (GRCm39) V33G probably damaging Het
Ptn T C 6: 36,720,282 (GRCm39) N90S probably damaging Het
Ptprt A T 2: 161,397,475 (GRCm39) probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrp1 G A 2: 117,119,122 (GRCm39) S505F probably damaging Het
Sesn1 G A 10: 41,770,886 (GRCm39) R139H probably benign Het
Slc17a7 T A 7: 44,818,144 (GRCm39) L23Q probably damaging Het
Slc30a10 G T 1: 185,187,333 (GRCm39) E25* probably null Het
Smco1 A G 16: 32,092,583 (GRCm39) I85V probably benign Het
Vmn1r76 A T 7: 11,664,496 (GRCm39) S239R probably benign Het
Zc3h7a A T 16: 10,974,074 (GRCm39) V237D possibly damaging Het
Other mutations in Ets2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00571:Ets2 APN 16 95,513,185 (GRCm39) missense probably benign 0.01
IGL00843:Ets2 APN 16 95,510,837 (GRCm39) missense probably benign 0.03
IGL01911:Ets2 APN 16 95,512,802 (GRCm39) missense probably damaging 1.00
R0257:Ets2 UTSW 16 95,513,245 (GRCm39) nonsense probably null
R0317:Ets2 UTSW 16 95,513,193 (GRCm39) missense probably damaging 1.00
R0398:Ets2 UTSW 16 95,517,267 (GRCm39) missense probably damaging 1.00
R0478:Ets2 UTSW 16 95,517,306 (GRCm39) missense probably damaging 1.00
R0634:Ets2 UTSW 16 95,517,200 (GRCm39) missense possibly damaging 0.87
R1621:Ets2 UTSW 16 95,510,913 (GRCm39) missense probably damaging 1.00
R1868:Ets2 UTSW 16 95,516,118 (GRCm39) missense probably benign 0.00
R2120:Ets2 UTSW 16 95,519,977 (GRCm39) missense probably benign 0.17
R3037:Ets2 UTSW 16 95,517,109 (GRCm39) missense probably benign 0.19
R4086:Ets2 UTSW 16 95,510,833 (GRCm39) missense probably damaging 1.00
R4609:Ets2 UTSW 16 95,512,818 (GRCm39) missense probably benign 0.03
R4760:Ets2 UTSW 16 95,520,087 (GRCm39) missense probably damaging 1.00
R5245:Ets2 UTSW 16 95,513,304 (GRCm39) nonsense probably null
R5551:Ets2 UTSW 16 95,513,165 (GRCm39) missense probably damaging 1.00
R6057:Ets2 UTSW 16 95,515,416 (GRCm39) missense probably benign 0.00
R6376:Ets2 UTSW 16 95,520,037 (GRCm39) missense probably damaging 1.00
R7545:Ets2 UTSW 16 95,516,127 (GRCm39) missense probably benign 0.45
R7905:Ets2 UTSW 16 95,507,304 (GRCm39) missense probably damaging 0.97
R8013:Ets2 UTSW 16 95,517,144 (GRCm39) missense probably damaging 1.00
R8297:Ets2 UTSW 16 95,507,321 (GRCm39) missense probably damaging 1.00
R8482:Ets2 UTSW 16 95,516,019 (GRCm39) missense probably benign 0.00
R9489:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
R9605:Ets2 UTSW 16 95,516,121 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTGAACATCTGTCGGTCCCAG -3'
(R):5'- CTTTGGAGCAAGTGGGTCAG -3'

Sequencing Primer
(F):5'- CCCAGTGACAGTCAGGTTTTTCAG -3'
(R):5'- ACGGGCTTCCCACTCAGTC -3'
Posted On 2015-04-17